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Synthesis framework estimating prevalence of MCADD and sensitivity of newborn screening programme in the absence of direct evidence

Abstract:
Background and Objectives Several countries have included medium-chain acyl-CoA dehydrogenase deficiency (MCADD) in their newborn screening programs. However, the sensitivity of the programs cannot be estimated directly as only individuals with a positive result undergo a definitive diagnostic test. We propose a framework to overcome this limitation and estimate the prevalence of disease, sensitivity of screening, and its yield relative to no screening.

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Institution:
University of Oxford
Department:
Oxford, MSD, Population Health
Khalid, JM More by this author
Dezateux, C More by this author
Publisher:
Elsevier USA
Journal:
Journal of Clinical Epidemiology
Volume:
67
Issue:
10
Pages:
1131-1138
Publication date:
2014-10-01
DOI:
EISSN:
1878-5921
ISSN:
0895-4356
URN:
uuid:b804e4b9-1af3-4943-82d7-2ebe4afa8580
Source identifiers:
489611
Local pid:
pubs:489611

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